Literature Watch

Everolimus induced pneumonitis in a liver transplant patient: Dilemma in the discrimination of pneumonia

Drug-induced Adverse Events - Thu, 2025-02-27 06:00

Turk J Surg. 2025 Feb 27;41(1):105-107. doi: 10.47717/turkjsurg.2022.5489.

ABSTRACT

Everolimus is one of the immunosuppressive drugs used in solid organ transplantation. Many side effects have been described for these immunosuppressive drugs, similar to other drugs in this category. The purpose of this case presentation is to draw attention to drug-induced pneumonitis, which is a rare and life-threatening side effect of everolimus. A nineteen-year-old female patient who received liver transplantation for toxic hepatitis was admitted to our institute with cough and dyspnea. Everolimus had been started in conjunction with tacrolimus therapy 6 months prior to admission. Her chest imaging were consistent with pneumonitis. Markers of infection and cultures were all negative. After discontinuation of everolimus, symptoms and radiological findings resolved. The adverse effects of the drug should be kept in mind while investigating possible infectious agents in liver transplant recipients who are prone to opportunistic infections.

PMID:40012361 | DOI:10.47717/turkjsurg.2022.5489

Categories: Literature Watch

Retrospective Analysis of the Safety of High-Volume Dental Articaine Preparations for Japanese Patients

Drug-induced Adverse Events - Thu, 2025-02-27 06:00

Acta Med Okayama. 2025 Feb;79(1):31-37. doi: 10.18926/AMO/68356.

ABSTRACT

We retrospectively analyzed the safety of the use of articaine, an amide-type local anesthetic, in Japanese dental patients (n=300) treated in Thailand in 2015-2017. The dosage, adverse events (AEs) caused by local anesthesia, and treatment efficacy were examined. Articaine, which is safe for patients with liver impairments due to its unique metabolism, has not been thoroughly tested in Japan for doses above 5.1 mL. Eighty of the present patients had undergone root canal treatment (RCT), 71 underwent tooth extraction, and 149 underwent implant-related surgery. More than three articaine cartridges were used in 41 patients, and no AEs occurred in these cases. The only AE occurred in a 52-year-old woman who was treated with three cartridges and presented with what appeared to be hyperventilation syndrome; she later recovered and received her dental treatment as scheduled. Most treatments were completed with three or fewer cartridges, suggesting that this number is generally sufficient. Our findings, particularly the low AE risk even with doses exceeding three cartridges, support the potential applicability of the overseas recommended maximum dose of articaine (7 mg/kg) in Japanese patients. This conclusion is significant for advancing dental anesthetic practices and ensuring patient safety and treatment efficacy in Japan.

PMID:40012157 | DOI:10.18926/AMO/68356

Categories: Literature Watch

Characteristics and patterns of adverse event reports in the Japanese Adverse Drug Event Report database over two decades (2004-2023): Exploring findings on sexes and age groups

Drug-induced Adverse Events - Wed, 2025-02-26 06:00

Drug Discov Ther. 2025 Mar 6;19(1):10-21. doi: 10.5582/ddt.2024.01090. Epub 2025 Feb 26.

ABSTRACT

Recently, increased attention has been paid to the consideration of individual characteristics, including sex and age, in the context of medication use and adverse events. However, the characteristics and patterns of adverse events reported in the Japanese Adverse Drug Event Report (JADER) database stratified by sex and age have not yet been clarified. This study aimed to clarify the characteristics and patterns of adverse event reports in the JADER database over a 20-year period (April 2004-March 2024). Data were stratified into 20 groups based on sex and age (aged 0-9 years, 10-19 years, 20-29 years, 30-39 years, 40-49 years, 50-59 years, 60-69 years, 70-79 years, 80-89 years, and ≥90 years). The female/male ratio of adverse event reports in JADER was 0.95. The largest group comprised males in their 70s. Adjusting for the proportion of adverse event reports in each group according to the demographic composition in 2015 highlighted that the reporting rates of adverse events were higher in people aged ≥70 years and that females aged 20-49 years reported more adverse events than males. Medical history, causative drugs, and adverse events reported to JADER were characterized by combinations of sex and age. Our results provide additional insights into the interpretation of previous studies using JADER. In addition, the results of this study will help understand the characteristics of adverse event reports contained in JADER and conduct appropriate subgroup and sensitivity analyses.

PMID:40010736 | DOI:10.5582/ddt.2024.01090

Categories: Literature Watch

Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities

Orphan or Rare Diseases - Wed, 2025-02-26 06:00

Orphanet J Rare Dis. 2025 Feb 26;20(1):88. doi: 10.1186/s13023-025-03581-y.

ABSTRACT

BACKGROUND: The mucopolysaccharidoses are a group of rare, inherited metabolic disorders. MPS II is a X-linked recessive disease, also known as Hunter syndrome. Clinical manifestations include upper and lower respiratory tract, and head and neck pathologies influencing quality of life, morbidity, and mortality. Medical and surgical intervention outcomes for MPS are reported inconsistently, creating a challenge when synthesising and contrasting evidence. This study set out to address the inconsistency in outcome measurement in this field. International recommendations for developing a core outcome set were adopted. Available data from qualitative studies and outcomes from a modified e-Delphi surveys were used to develop a list of candidate outcomes for consideration. Three consensus meetings with patients diagnosed with MPS II alongside their parents/carers were ran to help finalise a list of outcome domains.

RESULTS: Survival, airway obstruction, and quality of life were outcomes identified as important to always measure in all MPS II clinical trials and/or in clinical practice. Other outcomes for younger children included swallowing difficulties, cognitive development, ability to participate in education, and communication. The adolescent group included safety of chewing and swallowing, complications of anaesthesia, sleep quality and apnoea, nasal problems, and chronic otitis media. The adult group identified sleep apnoea, and hearing, as additional outcomes to measure.

CONCLUSIONS: A novel methodology for determining a core outcome set in rare diseases has been recommended. Both functional and quality of life outcomes were identified by the three age groups of individuals and/or their parents. Adoption of these sets of outcomes in future clinical trials and/or clinical practice will enable comparison of outcomes reported.

PMID:40011961 | DOI:10.1186/s13023-025-03581-y

Categories: Literature Watch

Rare disease challenges and potential actions in the Middle East

Orphan or Rare Diseases - Wed, 2025-02-26 06:00

Int J Equity Health. 2025 Feb 26;24(1):56. doi: 10.1186/s12939-025-02388-4.

ABSTRACT

BACKGROUND: Rare diseases, defined variably by global regions, collectively impact approximately 300 million individuals despite affecting small population segments individually. Historically there were no treatments developed for these conditions, leading to significant care challenges. Public interventions have incentivized treatment development, yet up to this day, many rare disease patients are deprived of timely diagnosis and treatment in comparison to patients with more common diseases. This study evaluates the challenges that rare disease patients and healthcare systems face in the Middle East and North Africa (MENA), seeking strategies to enhance treatment accessibility.

METHODS: We followed a three-step approach for the study. First, we searched scientific publications and grey literature for the global challenges faced by rare disease patients. Our search also collected information on orphan drug regulations implemented in different countries. Subsequently, we used the findings to conduct a survey to pharmaceutical company representatives across three countries in the region (The Kingdom of Saudi Arabia, Egypt, and the United Arab Emirates). The survey assessed the challenges facing rare disease patients in the MENA region and the policies that have been implemented to overcome these challenges. The survey was then followed by governmental expert interviews to validate the survey responses and provide recommendations to mitigate the challenges.

RESULTS: The literature and survey results revealed several challenges facing rare diseases, including lack of awareness, difficulty in acquiring marketing authorization and reimbursing orphan drugs. Validation meetings provided recommendations to mitigate such challenges in the selected countries. For instance, the collaboration between the Ministry of Health and pharmaceutical companies was recommended to improve rare diseases care. A separate registration process for orphan drugs with clear criteria and timelines was suggested. A differential cost-effectiveness threshold for orphan drugs was recommended. It was also recommended to establish a definition for rare diseases and to increase the utilization of managed entry agreements for orphan drugs.

CONCLUSIONS: Rare diseases present challenges in the MENA region and globally, requiring focused attention and innovative solutions. By implementing comprehensive strategies that consider both economic efficiency and fairness, healthcare systems can better serve rare disease patients and improve their quality of life.

PMID:40011905 | DOI:10.1186/s12939-025-02388-4

Categories: Literature Watch

Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial

Drug Repositioning - Wed, 2025-02-26 06:00

BMJ Open. 2025 Feb 26;15(2):e091495. doi: 10.1136/bmjopen-2024-091495.

ABSTRACT

INTRODUCTION: Wolfram syndrome (WFS1-Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression. Sodium valproate, an anticonvulsant with neuroprotective properties, is anticipated to mediate its effect via alteration of cell cycle kinetics, increases in p21cip1 expression levels and reduction in apoptosis and increase in Wolframin protein expression. To date, there have been no multicentre randomised controlled trials investigating the efficacy of treatments for neurodegeneration in patients with Wolfram syndrome.

METHODS AND ANALYSIS: TREATWOLFRAM is an international, multicentre, double-blind, placebo-controlled, randomised clinical trial designed to investigate whether 36-month treatment with up to 40 mg/kg/day of sodium valproate will slow the rate of loss of visual acuity as a biomarker for neurodegeneration in patients with Wolfram syndrome. Patients who satisfied the eligibility criteria were randomly assigned (2:1) to receive two times per day oral gastro-resistant sodium valproate tablets up to a maximum dose of 800 mg 12 hourly or sodium valproate-matched placebo. Using hierarchical repeated measures analyses with a 5% significance level, 80% power and accounting for an estimated 15% missing data rate, a sample size of 70 was set. The primary outcome measure, visual acuity, will be centrally reviewed and analysed on an intention-to-treat population.

ETHICS AND DISSEMINATION: The protocol was approved by the National Research Ethics Service (West of Scotland; 18/WS/0020) and by the Medicines and Healthcare products Regulatory Agency. Recruitment into TREATWOLFRAM started in January 2019 and ended in November 2021. The treatment follow-up of TREATWOLFRAM participants is ongoing and due to finish in November 2024. Updates on trial progress are disseminated via Wolfram Syndrome UK quarterly newsletters and at family conferences for patient support groups. The findings of this trial will be disseminated through peer-reviewed publications and international presentations.

TRIAL REGISTRATION NUMBER: NCT03717909.

PMID:40010822 | DOI:10.1136/bmjopen-2024-091495

Categories: Literature Watch

Advances in bioinformatic methods for the acceleration of the drug discovery from nature

Drug Repositioning - Wed, 2025-02-26 06:00

Phytomedicine. 2025 Feb 14;139:156518. doi: 10.1016/j.phymed.2025.156518. Online ahead of print.

ABSTRACT

BACKGROUND: Drug discovery from nature has a long, ethnopharmacologically-based background. Today, natural resources are undeniably vital reservoirs of active molecules or drug leads. Advances in (bio)informatics and computational biology emphasized the role of herbal medicines in the drug discovery pipeline.

PURPOSE: This review summarizes bioinformatic approaches applied in recent drug discovery from nature.

STUDY DESIGN: It examines advancements in molecular networking, pathway analysis, network pharmacology within a systems biology framework and AI for assessing the therapeutic potential of herbal preparations.

METHODS: A comprehensive literature search was conducted using Pubmed, SciFinder, and Google Database. Obtained data was analyzed and organized in subsections: AI, systems biology integrative approach, network pharmacology, pathway analysis, molecular networking, structure-based virtual screening.

RESULTS: Bioinformatic approaches is now essential for high-throughput data analysis in drug target identification, mechanism-based drug discovery, drug repurposing and side-effects prediction. Large datasets obtained from "omics" approaches require bioinformatic calculations to unveil interactions, and patterns in disease-relevant conditions. These tools enable databases annotations, pattern-matching, connections discovery, molecular relationship exploration, and data visualisation.

CONCLUSION: Despite the complexity of plant metabolites, bioinformatic approaches assist in characterization of herbal preparations and selection of bioactive molecule. It is perceived as powerful tool for uncovering multi-target effects and potential molecular mechanisms of compounds. By integrating multiple networks that connect gene-disease, drug-target and gene-drug-target, drug discovery from natural sources is experiencing a remarkable comeback.

PMID:40010031 | DOI:10.1016/j.phymed.2025.156518

Categories: Literature Watch

A labeled medical records corpus for the timely detection of rare diseases using machine learning approaches

Orphan or Rare Diseases - Wed, 2025-02-26 06:00

Sci Rep. 2025 Feb 26;15(1):6932. doi: 10.1038/s41598-025-90450-0.

ABSTRACT

Rare diseases (RDs) are a group of pathologies that individually affect less than 1 in 2000 people but collectively impact around 7% of the world's population. Most of them affect children, are chronic and progressive, and have no specific treatment. RD patients face diagnostic challenges, with an average diagnosis time of 5 years, multiple specialist visits, and invasive procedures. This 'diagnostic odyssey' can be detrimental to their health. Machine learning (ML) has the potential to improve healthcare by providing more personalized and accurate patient management, diagnoses, and in some cases, treatments. Leveraging the MIMIC-III database and additional medical notes from different sources such as in-house data, PubMed and chatGPT, we propose a labeled dataset for early RD detection in hospital settings. Applying various supervised ML methods, including logistic regression, decision trees, support vector machine (SVM), deep learning methods (LSTM and CNN), and Transformers (BERT), we validated the use of the proposed resource, achieving 92.7% F-measure and a 96% AUC using SVM. These findings highlight the potential of ML in redirecting RD patients towards more accurate diagnostic pathways and presents a corpus that can be used for future development and refinements.

PMID:40011510 | DOI:10.1038/s41598-025-90450-0

Categories: Literature Watch

Comparative characterization of human accelerated regions in neurons

Pharmacogenomics - Wed, 2025-02-26 06:00

Nature. 2025 Feb 26. doi: 10.1038/s41586-025-08622-x. Online ahead of print.

ABSTRACT

Human accelerated regions (HARs) are conserved genomic loci that have experienced rapid nucleotide substitutions following the divergence from chimpanzees1,2. HARs are enriched in candidate regulatory regions near neurodevelopmental genes, suggesting their roles in gene regulation3. However, their target genes and functional contributions to human brain development remain largely uncharacterized. Here we elucidate the cis-regulatory functions of HARs in human and chimpanzee induced pluripotent stem (iPS) cell-induced excitatory neurons. Using genomic4 and chromatin looping information, we prioritized 20 HARs and their chimpanzee orthologues for functional characterization via single-cell CRISPR interference, and demonstrated their species-specific gene regulatory functions. Our findings reveal diverse functional outcomes of HAR-mediated cis-regulation in human neurons, including attenuated NPAS3 expression by altering the binding affinities of multiple transcription factors in HAR202 and maintaining iPS cell pluripotency and neuronal differentiation capacities through the upregulation of PUM2 by 2xHAR.319. Finally, we used prime editing to demonstrate differential enhancer activity caused by several HAR26;2xHAR.178 variants. In particular, we link one variant in HAR26;2xHAR.178 to elevated SOCS2 expression and increased neurite outgrowth in human neurons. Thus, our study sheds new light on the endogenous gene regulatory functions of HARs and their potential contribution to human brain evolution.

PMID:40011774 | DOI:10.1038/s41586-025-08622-x

Categories: Literature Watch

Association Between CYP2D6 Genotypes and Serum Concentrations of Mirtazapine and Mianserin

Pharmacogenomics - Wed, 2025-02-26 06:00

Basic Clin Pharmacol Toxicol. 2025 Apr;136(4):e70013. doi: 10.1111/bcpt.70013.

ABSTRACT

The aim of the present study was to investigate the effect of CYP2D6 genotypes on mirtazapine and mianserin serum concentrations. Patients were included retrospectively from a therapeutic drug monitoring service. Multiple linear regression analysis was used to investigate the effect of CYP2D6 genotype, age and sex on mirtazapine and mianserin concentration-to-dose (C/D) ratio. The study included 2315 mirtazapine patients and 474 mianserin patients who were assigned to the genotype-predicted phenotype groups of CYP2D6 poor metabolizers (PMs), intermediate metabolizers (IMs), normal metabolizers (NMs) and ultrarapid metabolizers (UMs). Multiple linear regression analysis revealed 18% and 14% higher mirtazapine C/D ratio in CYP2D6 PMs and IMs, respectively, compared with NMs (p ≤ 0.004). For mianserin, the C/D ratio was 80% and 45% higher in PMs and IMs, respectively, compared with NMs (p < 0.001). The C/D ratio in UMs did not differ from NMs for either drug (p ≥ 0.3). In conclusion, CYP2D6 genotype was only associated with a minor change in mirtazapine serum concentration. The association between CYP2D6 genotype and mianserin serum concentration was greater, with 80% higher mianserin C/D ratio in CYP2D6 PMs compared with NMs.

PMID:40010695 | DOI:10.1111/bcpt.70013

Categories: Literature Watch

Atlas of expression of acyl CoA binding protein/diazepam binding inhibitor (ACBP/DBI) in human and mouse

Cystic Fibrosis - Wed, 2025-02-26 06:00

Cell Death Dis. 2025 Feb 26;16(1):134. doi: 10.1038/s41419-025-07447-w.

ABSTRACT

Acyl CoA binding protein encoded by diazepam binding inhibitor (ACBP/DBI) is a tissue hormone that stimulates lipo-anabolic responses and inhibits autophagy, thus contributing to aging and age-related diseases. Protein expression profiling of ACBP/DBI was performed on mouse tissues to identify organs in which this major tissue hormone is expressed. Transcriptomic and proteomic data bases corroborated a high level of human-mouse interspecies conservation of ACBP/DBI expression in different organs. Single-cell RNA-seq data confirmed that ACBP/DBI was strongly expressed by parenchymatous cells from specific human and mouse organs (e.g., kidney, large intestine, liver, lung) as well as by myeloid or glial cells from other organs (e.g., adipose tissue, brain, eye) following a pattern that was conserved among the two species. We identified a panel of 44 mRNAs that are strongly co-expressed with ACBP/DBI mRNA in normal and malignant human and normal mouse tissues. Of note, 22 (50%) of these co-expressed mRNAs encode proteins localized at mitochondria, and mRNAs with metabolism-related functions are strongly overrepresented (66%). Systematic data mining was performed to identify transcription factors that regulate ACBP/DBI expression in human and mouse. Several transcription factors, including growth response 1 (EGR1), E2F Transcription Factor 1 (E2F1, which interacts with retinoblastoma, RB) and transformation-related protein 53 (TRP53, best known as p53), which are endowed with oncosuppressive effects, consistently repress ACBP/DBI expression as well as its co-expressed mRNAs across multiple datasets, suggesting a mechanistic basis for a coregulation network. Furthermore, we identified multiple transcription factors that transactivate ACBP/DBI gene expression together with its coregulation network. Altogether, this study indicates the existence of conserved mechanisms determining the expression of ACBP/DBI in specific cell types of the mammalian organism.

PMID:40011442 | DOI:10.1038/s41419-025-07447-w

Categories: Literature Watch

Infrared spectrum analysis of organic molecules with neural networks using standard reference data sets in combination with real-world data

Deep learning - Wed, 2025-02-26 06:00

J Cheminform. 2025 Feb 26;17(1):24. doi: 10.1186/s13321-025-00960-2.

ABSTRACT

In this study, we propose a neural network- based approach to analyze IR spectra and detect the presence of functional groups. Our neural network architecture is based on the concept of learning split representations. We demonstrate that our method achieves favorable validation performance using the NIST dataset. Furthermore, by incorporating additional data from the open-access research data repository Chemotion, we show that our model improves the classification performance for nitriles and amides. Scientific contribution: Our method exclusively uses IR data as input for a neural network, making its performance, unlike other well-performing models, independent of additional data types obtained from analytical measurements. Furthermore, our proposed method leverages a deep learning model that outperforms previous approaches, achieving F1 scores above 0.7 to identify 17 functional groups. By incorporating real-world data from various laboratories, we demonstrate how open-access, specialized research data repositories can serve as yet unexplored, valuable benchmark datasets for future machine learning research.

PMID:40011923 | DOI:10.1186/s13321-025-00960-2

Categories: Literature Watch

CSEPC: a deep learning framework for classifying small-sample multimodal medical image data in Alzheimer's disease

Deep learning - Wed, 2025-02-26 06:00

BMC Geriatr. 2025 Feb 26;25(1):130. doi: 10.1186/s12877-025-05771-6.

ABSTRACT

BACKGROUND: Alzheimer's disease (AD) is a neurodegenerative disorder that significantly impacts health care worldwide, particularly among the elderly population. The accurate classification of AD stages is essential for slowing disease progression and guiding effective interventions. However, limited sample sizes continue to present a significant challenge in classifying the stages of AD progression. Addressing this obstacle is crucial for improving diagnostic accuracy and optimizing treatment strategies for those affected by AD.

METHODS: In this study, we proposed cross-scale equilibrium pyramid coupling (CSEPC), which is a novel diagnostic algorithm designed for small-sample multimodal medical imaging data. CSEPC leverages scale equilibrium theory and modal coupling properties to integrate semantic features from different imaging modalities and across multiple scales within each modality. The architecture first extracts balanced multiscale features from structural MRI (sMRI) data and functional MRI (fMRI) data using a cross-scale pyramid module. These features are then combined through a contrastive learning-based cosine similarity coupling mechanism to capture intermodality associations effectively. This approach enhances the representation of both inter- and intramodal features while significantly reducing the number of learning parameters, making it highly suitable for small sample environments. We validated the effectiveness of the CSEPC model through experiments on the Alzheimer's Disease Neuroimaging Initiative (ADNI) dataset and demonstrated its superior performance in diagnosing and staging AD.

RESULTS: Our experimental results demonstrate that the proposed model matches or exceeds the performance of models used in previous studies in AD classification. Specifically, the model achieved an accuracy of 85.67% and an area under the curve (AUC) of 0.98 in classifying the progression from mild cognitive impairment (MCI) to AD. To further validate its effectiveness, we used our method to diagnose different stages of AD. In both classification tasks, our approach delivered superior performance.

CONCLUSIONS: In conclusion, the performance of our model in various tasks has demonstrated its significant potential in the field of small-sample multimodal medical imaging classification, particularly AD classification. This advancement could significantly assist clinicians in effectively managing and intervening in the disease progression of patients with early-stage AD.

PMID:40011826 | DOI:10.1186/s12877-025-05771-6

Categories: Literature Watch

Using deep learning to differentiate among histology renal tumor types in computed tomography scans

Deep learning - Wed, 2025-02-26 06:00

BMC Med Imaging. 2025 Feb 26;25(1):66. doi: 10.1186/s12880-025-01606-3.

ABSTRACT

BACKGROUND: This study employed a convolutional neural network (CNN) to analyze computed tomography (CT) scans with the aim of differentiating among renal tumors according to histologic sub-type.

METHODS: Contrast-enhanced CT images were collected from patients with renal tumors. The patient cohort was randomly split to create a training dataset (90%) and a testing dataset (10%). Following image dataset augmentation, Inception V3 and Resnet50 models were used to differentiate between renal tumors subtypes, including angiomyolipoma (AML), oncocytoma, clear cell renal cell carcinoma (ccRCC), chromophobe renal cell carcinoma (chRCC), and papillary renal cell carcinoma (pRCC). 5-fold cross validation was then used to evaluate the models in terms of classification performance.

RESULTS: The study cohort comprised 554 patients, including those with angiomyolipoma (n = 67), oncocytoma (n = 34), clear cell renal cell carcinoma (n = 246), chromophobe renal cell carcinoma (n = 124), and papillary renal cell carcinoma (n = 83). Dataset augmentation of the training dataset included this to 4238 CT images for analysis. The accuracy of the models was as follows: Inception V3 (0.830) and Resnet 50 (0.849).

CONCLUSION: This study demonstrated the efficacy of using deep learning models for the classification of renal tumor subtypes from contrast-enhanced CT images. While the models showed promising accuracy, further development is necessary to improve their clinical applicability.

PMID:40011809 | DOI:10.1186/s12880-025-01606-3

Categories: Literature Watch

Improved sand cat swarm optimization algorithm assisted GraphSAGE-GRU for remaining useful life of engine

Deep learning - Wed, 2025-02-26 06:00

Sci Rep. 2025 Feb 26;15(1):6935. doi: 10.1038/s41598-025-91418-w.

ABSTRACT

With the development of deep learning, the potential for its use in remaining useful life (RUL) has substantially increased in recent years due to the powerful data processing capabilities. However, the relationships and interdependencies of operation parameters in non-Euclidean space are ignored utilizing the current deep learning-based methods during the degradation process for engine. To address this challenge, an improved sand cat swarm optimization-assisted Graph SAmple and aggregate and gate recurrent unit (ISCSO-GraphSage-GRU) is proposed to achieve RUL prediction in this work. Firstly, the maximum information coefficient (MIC) is utilized for describing the interdependent relations of measured parameters. Building on this foundation, the constructed graph data is used as input to GraphSage-GRU so as to overcoming the shortcomings of existing deep learning methods. Additionally, this work proposed an improved sand cat swarm optimization (ISCSO) to improve the predicted performance of GraphSage-GRU, including tent mapping in population initialization and a novel adaptive approach enhance the exploration and exploitation of sand cat swarm optimization. The CMAPSS dataset is used to validate the effectiveness and advancedness of ISCSO-GraphSage-GRU, and the experimental results show that the R2 of the ISCSO-GraphSage-GRU is greater than 0.99, RMSE is less than 6.

PMID:40011762 | DOI:10.1038/s41598-025-91418-w

Categories: Literature Watch

Supervised and unsupervised deep learning-based approaches for studying DNA replication spatiotemporal dynamics

Deep learning - Wed, 2025-02-26 06:00

Commun Biol. 2025 Feb 26;8(1):311. doi: 10.1038/s42003-025-07744-2.

ABSTRACT

In eukaryotic cells, DNA replication is organised both spatially and temporally, as evidenced by the stage-specific spatial distribution of replication foci in the nucleus. Despite the genetic association of aberrant DNA replication with numerous human diseases, the labour-intensive methods employed to study DNA replication have hindered large-scale analyses of its roles in pathological processes. In this study, we employ two distinct methodologies. We first apply supervised machine learning, successfully classifying S-phase patterns in wild-type mouse embryonic stem cells (mESCs), while additionally identifying altered replication dynamics in Rif1-deficient mESCs. Given the constraints imposed by a classification-based approach, we then develop an unsupervised method for large-scale detection of aberrant S-phase cells. Such a method, which does not aim to classify patterns based on pre-defined categories but rather detects differences autonomously, closely recapitulates expected differences across genotypes. We therefore extend our approach to a well-characterised cellular model of inducible deregulated origin firing, involving cyclin E overexpression. Through parallel EdU- and PCNA-based analyses, we demonstrate the potential applicability of our method to patient samples, offering a means to identify the contribution of deregulated DNA replication to a plethora of pathogenic processes.

PMID:40011665 | DOI:10.1038/s42003-025-07744-2

Categories: Literature Watch

DeepCristae, a CNN for the restoration of mitochondria cristae in live microscopy images

Deep learning - Wed, 2025-02-26 06:00

Commun Biol. 2025 Feb 26;8(1):320. doi: 10.1038/s42003-025-07684-x.

ABSTRACT

Mitochondria play an essential role in the life cycle of eukaryotic cells. However, we still don't know how their ultrastructure, like the cristae of the inner membrane, dynamically evolves to regulate these fundamental functions, in response to external conditions or during interaction with other cell components. Although high-resolution fluorescent microscopy coupled with recently developed innovative probes can reveal this structural organization, their long-term, fast and live 3D imaging remains challenging. To address this problem, we have developed a CNN, called DeepCristae, to restore mitochondria cristae in low spatial resolution microscopy images. Our network is trained from 2D STED images using a novel loss specifically designed for cristae restoration. To efficiently increase the size of the training set, we also developed a random image patch sampling centered on mitochondrial areas. To evaluate DeepCristae, quantitative assessments are carried out using metrics we derived by focusing on the mitochondria and cristae pixels rather than on the whole image as usual. Depending on the conditions of use indicated, DeepCristae works well on broad microscopy modalities (Stimulated Emission Depletion (STED), Live-SR, AiryScan and LLSM). It is ultimately applied in the context of mitochondrial network dynamics during interaction with endo/lysosome membranes.

PMID:40011620 | DOI:10.1038/s42003-025-07684-x

Categories: Literature Watch

Early attention-deficit/hyperactivity disorder (ADHD) with NeuroDCT-ICA and rhinofish optimization (RFO) algorithm based optimized ADHD-AttentionNet

Deep learning - Wed, 2025-02-26 06:00

Sci Rep. 2025 Feb 26;15(1):6967. doi: 10.1038/s41598-025-90649-1.

ABSTRACT

The ADHD detector analyzes behavioral, cognitive, or physiological data (e.g., EEG, eye-tracking, or surveys) to identify patterns associated with ADHD symptoms. This work offers a more sophisticated method of detecting ADHD by overcoming the main drawbacks of existing approaches in terms of data processing, detection accuracy, and computational time. The work is inspired by the fact that Deep Learning (DL) frameworks could transform the existing detection systems of ADHD. In the proposed framework, there is a new NeuroDCT-ICA module for the preprocessing of raw EEG data, which guarantees the elimination of noise and extraction of informative features. Moreover, the method introduces a novel RhinoFish Optimization (RFO) algorithm for selecting optimal features, which enhance the data processing capacity and the stability of the system. As a core of the approach, there is the ADHD-AttentionNet - the deep learning-based model aimed at improving the accuracy and confidence of ADHD identification. The model is validated with the standard metrics, and the performance of the model is outstanding as it has high accuracy of 98.52%, F-score of 98.26% and specificity of 98.16%. These outcomes show that the proposed model yields better accuracy in detecting ADHD related patterns.

PMID:40011599 | DOI:10.1038/s41598-025-90649-1

Categories: Literature Watch

Early prediction of CKD from time series data using adaptive PSO optimized echo state networks

Deep learning - Wed, 2025-02-26 06:00

Sci Rep. 2025 Feb 26;15(1):6966. doi: 10.1038/s41598-025-91028-6.

ABSTRACT

Chronic Kidney Disease (CKD) is a significant problem in today's healthcare since it is challenging to detect until it has improved significantly, which increases medical expenses. If CKD was detected early, the patient might qualify for more effective treatment and prevent the disease from spreading further. Presently, existing methods that effectively detect CKD cannot detect symptoms early on. This problem motivates researchers to work on a predictive model that successfully detects disease symptoms in the early stages. This study introduces a novel Adaptive Particle Swarm Optimization (APSO)-optimized Echo State Network (ESN) model designed to overcome key limitations of existing methods. ESNs, while effective in processing temporal sequences, are highly sensitive to hyperparameter settings such as spectral radius, input scaling, and sparsity, which directly impact stability, memory retention, and predictive Classification Accuracy (CA). To address this, APSO optimizes these hyperparameters dynamically, ensuring a balanced trade-off between stability and computational efficiency. Moreover, Random Matrix Theory (RMT) is integrated into APSO to regulate the spectral radius, enhancing the ESN's capability to handle long-term dependencies while maintaining stability in training. This investigation exploited the Medical Information Mart for Intensive Care-III (MIMIC-III) dataset to train the model they developed. The proposed method employs this data collection to analyze the highly complex temporal sequences signifying CKD is present. The hyperparameters of the ESN, such as the range of the spectral region and the input data sizing, can be optimized in real-time with APSO by applying Random Matrix Theory (RMT). Compared with different recognized models, such as conventional ESN and standard M, the recommended APSO + ESN proved to have higher CA in medical investigations. The APSO + ESN improved the subsequent highest-performing model by 2% in recall and 3% in precision and attained a CA of 99.6%.

PMID:40011588 | DOI:10.1038/s41598-025-91028-6

Categories: Literature Watch

SmartAPM framework for adaptive power management in wearable devices using deep reinforcement learning

Deep learning - Wed, 2025-02-26 06:00

Sci Rep. 2025 Feb 26;15(1):6911. doi: 10.1038/s41598-025-89709-3.

ABSTRACT

Wearable devices face a significant challenge in balancing battery life with performance, often leading to frequent recharging and reduced user satisfaction. In this paper, we introduce the SmartAPM (Smart Adaptive Power Management) framework, a novel approach that leverages deep reinforcement learning (DRL) to optimize power management in wearable devices. The key objective of SmartAPM is to prolong battery life while enhancing user experience through dynamic adjustments to specific usage patterns. We compiled a comprehensive dataset by integrating user activity data, sensor readings, and power consumption metrics from various sources, including WISDM, UCI HAR, and ExtraSensory. Synthetic power profiles and device specifications were incorporated into the dataset to enhance training. SmartAPM employs a multi-agent deep reinforcement learning framework that combines on-device and cloud-based learning techniques, as well as transfer learning, to enhance personalization. Simulations on wearable devices demonstrate that SmartAPM can extend battery life by 36% compared to traditional methods, while also increasing user satisfaction by 25%. The system adapts to new usage patterns within 24 h and utilizes less than 5% of the device's resources. SmartAPM has the potential to revolutionize energy management in wearable devices, inspiring a new era of battery efficiency and user satisfaction.

PMID:40011572 | DOI:10.1038/s41598-025-89709-3

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